ClinVar Miner

Variants studied for digestive tract malformation

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
1042 316 3528 1032 1017 2 3 6790

Gene and significance breakdown #

Total genes and gene combinations: 182
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RECQL4 97 26 1244 362 81 0 0 1799
KMT2D 210 144 238 136 82 0 3 757
FRAS1 45 4 284 46 121 0 0 495
ZEB2 109 12 169 81 46 0 0 409
FREM2 10 2 251 32 80 0 0 374
DYNC2H1 84 20 190 8 48 0 0 345
GLI3 54 2 89 65 110 0 0 305
TTC7A 29 4 127 32 24 0 0 210
MED12 7 5 111 43 38 0 0 204
WDR35 11 5 120 31 40 0 0 198
VANGL1 0 0 91 15 58 0 0 164
TBX3 7 1 63 14 50 0 0 132
SALL1 28 3 43 36 27 0 0 122
TBX1 8 1 72 19 17 0 0 115
GRIP1 2 0 73 20 10 0 0 104
PITX2 25 3 42 1 25 0 0 95
FOXC1 30 6 20 3 8 0 0 66
AAAS 12 3 42 8 1 0 0 63
DYNC2I1 9 3 14 16 19 0 0 60
KDM6A 20 16 9 5 10 0 0 59
PHOX2B 2 0 30 2 19 2 0 55
SALL4 20 0 6 5 21 0 0 52
KIFBP 1 0 39 3 8 0 0 49
FANCB 0 0 21 5 21 0 0 47
DYNC2I2 14 1 9 7 11 0 0 42
SOX2, SOX2-OT 24 1 4 0 2 0 0 31
ZIC3 2 0 18 2 7 0 0 28
MID1 17 6 4 0 1 0 0 27
ASIC4, GMPPA 5 0 6 9 5 0 0 25
PQBP1 10 0 5 1 7 0 0 22
FLNA 3 0 13 0 0 0 0 16
PTEN 4 1 10 0 0 0 0 15
MCFD2, TTC7A 0 0 9 2 3 0 0 14
CASQ2, VANGL1 0 0 0 0 13 0 0 13
MYCN 11 2 0 0 0 0 0 13
CENPF 7 3 2 0 0 0 0 12
RFX6 9 2 1 0 0 0 0 12
MNX1 11 0 0 0 0 0 0 11
BRCA2 5 0 2 0 0 0 0 7
LOC110011216, PHOX2B 0 0 3 2 2 0 0 7
LOC111721705, ZEB2 4 0 2 1 0 0 0 7
UBR1 6 0 1 0 0 0 0 7
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 5 1 0 0 0 0 0 6
CCNQ 5 0 0 0 0 0 0 5
HCCS 4 0 1 0 0 0 0 5
C22orf39, CDC45, CLDN5, CLTCL1, DGCR2, ESS2, GP1BB, GSC2, HIRA, MRPL40, PRODH, SEPTIN5, SLC25A1, TBX1, TSSK2, UFD1 2 0 2 0 0 0 0 4
CLMP 4 0 0 0 0 0 0 4
COX7B 3 0 1 0 0 0 0 4
DDN, KMT2D 0 0 1 3 0 0 0 4
FREM1 3 0 1 0 0 0 0 4
KLLN, PTEN 0 0 4 0 0 0 0 4
MYCN, MYCNOS 3 0 0 0 1 0 0 4
PALB2 2 0 2 0 0 0 0 4
SOX2 4 0 0 0 0 0 0 4
SPECC1L, SPECC1L-ADORA2A 2 2 0 0 0 0 0 4
​intergenic 3 0 0 0 0 0 0 3
HSPA9 3 0 0 0 0 0 0 3
NDUFB11 2 0 1 0 0 0 0 3
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
CLMP, LOC112042785 2 0 0 0 0 0 0 2
DACT1 1 0 0 1 0 0 0 2
DNHD1, RRP8 0 0 2 0 0 0 0 2
DYNC2I2, SPTAN1 1 0 1 0 0 0 0 2
FANCL 2 0 0 0 0 0 0 2
KIAA1109 0 1 1 0 0 0 0 2
KMT2A 2 0 0 0 0 0 0 2
LOC110120888, TBX1 2 0 0 0 0 0 0 2
LONP1 0 1 1 0 0 0 0 2
NEK1 2 0 0 0 0 0 0 2
PIGL 0 0 2 0 0 0 0 2
PKD1 0 0 2 0 0 0 0 2
RYR1 0 0 2 0 0 0 0 2
AAAS, MYG1 1 0 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 0 0 1
ABCC5, ABCF3, ACTL6A, ALG3, AP2M1, ATP11B, B3GNT5, C3orf70, CAMK2N2, CCDC39, CHRD, CLCN2, DCUN1D1, DNAJC19, DVL3, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EIF2B5, EIF4G1, EPHB3, FAM131A, FXR1, GNB4, HTR3C, HTR3D, HTR3E, IGF2BP2, KCNMB2, KCNMB3, KLHL24, KLHL6, LAMP3, LINC00888, LINC01014, LINC01206, LINC01839, LINC01840, LINC01994, LINC01995, LINC02015, LINC02031, LINC02053, LINC02054, LINC02069, LIPH, LOC101928739, LOC101928882, LOC102724604, LOC107986163, LOC108281177, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC112935913, LOC114004376, LOC115995533, LOC115995534, LOC115995535, MAGEF1, MAP3K13, MAP6D1, MCCC1, MCF2L2, MFN1, MIR1224, MIR4448, MIR5588, MRPL47, NDUFB5, PARL, PEX5L, PIK3CA, POLR2H, PSMD2, SENP2, SNORA63D, SNORA63E, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, THPO, TMEM41A, TTC14, USP13, VPS8, VWA5B2, YEATS2, ZMAT3, ZNF639 0 1 0 0 0 0 0 1
ABR, BHLHA9, TRARG1, YWHAE 0 0 0 1 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, GAB4, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B, TUBA8, USP18 1 0 0 0 0 0 0 1
ADA2, CECR3, GAB4, HDHD5, IL17RA, TMEM121B, XKR3 1 0 0 0 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FAM207A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SPATC1L, YBEY 1 0 0 0 0 0 0 1
ADCY6, ARF3, CACNB3, CCDC65, CCNT1, DDN, DDX23, FKBP11, KANSL2, KMT2D, PRKAG1, RHEBL1, RND1, WNT1, WNT10B 1 0 0 0 0 0 0 1
ADD1 0 1 0 0 0 0 0 1
AGMO 0 0 0 1 0 0 0 1
AIFM3, ARVCF, BCR, C22orf39, CCDC116, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA, IGLC1, IGLL5, KLHL22, LZTR1, MAPK1, MED15, MICAL3, MIR130B, MRPL40, P2RX6, PEX26, PI4KA, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, USP18, USP41, VPREB1, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF74 1 0 0 0 0 0 0 1
ALPK3, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 0 0 0 1 0 0 0 1
AMER3 0 1 0 0 0 0 0 1
ANKS1B, UHRF1BP1L 0 0 0 1 0 0 0 1
ANTXR1 0 0 1 0 0 0 0 1
AOPEP, FANCC 1 0 0 0 0 0 0 1
AP1G2, LOC102724814 0 1 0 0 0 0 0 1
APC2 0 1 0 0 0 0 0 1
ARHGAP15, GTDC1, HNMT, KYNU, LRP1B, NXPH2, SPOPL, THSD7B, ZEB2 1 0 0 0 0 0 0 1
ARHGAP31 0 0 1 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 0 1
ARVCF, COMT, GNB1L, GP1BB, LOC110120888, LOC112694764, LOC112694766, MIR4761, RTL10, SEPT5-GP1BB, SEPTIN5, TBX1, TXNRD2 1 0 0 0 0 0 0 1
AXIN1 1 0 0 0 0 0 0 1
B3GNTL1, METRNL, TBCD 0 0 0 1 0 0 0 1
BBS10 1 0 0 0 0 0 0 1
BCOR 0 0 1 0 0 0 0 1
BCR, GGTLC2, GNAZ, IGLC1, IGLL5, RAB36, RSPH14 1 0 0 0 0 0 0 1
BRIP1 1 0 0 0 0 0 0 1
C12orf60, GUCY2C 1 0 0 0 0 0 0 1
C22orf39, CDC45, CLDN5, CLTCL1, GP1BB, HIRA, MRPL40, SEPTIN5, SLC25A1, TBX1, UFD1 1 0 0 0 0 0 0 1
CCDC74A, MZT2A, TUBA3D 0 0 0 1 0 0 0 1
CDH13 0 1 0 0 0 0 0 1
CDX2 0 1 0 0 0 0 0 1
CELSR2 0 1 0 0 0 0 0 1
CEP290 0 0 1 0 0 0 0 1
CHD7 1 0 0 0 0 0 0 1
CHD8 0 0 1 0 0 0 0 1
CHST5 0 0 0 1 0 0 0 1
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRBOX4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 0 0 0 0 0 1
CNKSR2 0 0 1 0 0 0 0 1
CNTNAP2 0 0 0 1 0 0 0 1
COL1A1 1 0 0 0 0 0 0 1
CTNNB1 0 1 0 0 0 0 0 1
CYP11B1, LOC106799833 0 0 1 0 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 0 0 0 0 0 1
DNAJC15, EPSTI1 0 0 0 1 0 0 0 1
DNMT3B 0 0 1 0 0 0 0 1
DST 0 0 1 0 0 0 0 1
DVL3 0 0 1 0 0 0 0 1
EFTUD2 1 0 0 0 0 0 0 1
ENPEP, PITX2 1 0 0 0 0 0 0 1
FAM170A 0 1 0 0 0 0 0 1
FAM98C 0 1 0 0 0 0 0 1
FBP1, FBP2 0 0 0 1 0 0 0 1
FLNA, LOC107988032 0 0 1 0 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 0 0 1
FOXF1 0 1 0 0 0 0 0 1
FXYD4, HNRNPF 0 1 0 0 0 0 0 1
GABRG3 0 0 1 0 0 0 0 1
GART 0 1 0 0 0 0 0 1
GJB1, MED12, NLGN3 0 0 1 0 0 0 0 1
GLB1 0 1 0 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 0 0 1
GLMN 1 0 0 0 0 0 0 1
GLS 0 1 0 0 0 0 0 1
GMPPA 1 0 0 0 0 0 0 1
GPC5 0 0 0 1 0 0 0 1
GTDC1, LINC01412, LOC105373656, LOC110120671, LOC110121209, LOC111721705, LOC112806051, TEX41, ZEB2 1 0 0 0 0 0 0 1
GTF3C1 0 1 0 0 0 0 0 1
HCFC1 0 0 1 0 0 0 0 1
HOXD13 0 0 1 0 0 0 0 1
IDH2 0 0 1 0 0 0 0 1
INTU 1 0 0 0 0 0 0 1
IRF8 0 1 0 0 0 0 0 1
ITSN1 0 1 0 0 0 0 0 1
KLHL17 0 1 0 0 0 0 0 1
KMT2B 0 0 1 0 0 0 0 1
LURAP1L 0 1 0 0 0 0 0 1
MATN3, WDR35 0 0 0 0 1 0 0 1
MIR17HG 1 0 0 0 0 0 0 1
NALCN 0 0 0 1 0 0 0 1
NIPBL 0 0 1 0 0 0 0 1
NREP 0 0 0 1 0 0 0 1
PARM1 0 0 0 1 0 0 0 1
PCDH1 0 1 0 0 0 0 0 1
PIK3C2G 0 1 0 0 0 0 0 1
POLR2B 0 1 0 0 0 0 0 1
PRDM5 0 0 1 0 0 0 0 1
PTCH1 0 1 0 0 0 0 0 1
PTPN14 0 1 0 0 0 0 0 1
RAB3GAP2 0 1 0 0 0 0 0 1
SIX6 0 0 1 0 0 0 0 1
SLC1A1, SPATA6L 0 0 1 0 0 0 0 1
SLC9A4 0 0 1 0 0 0 0 1
SMAD6 0 1 0 0 0 0 0 1
SMYD3 0 0 0 1 0 0 0 1
SORCS1 0 0 0 1 0 0 0 1
SOX2, SOX2-OT, SOX2-SRR2 1 0 0 0 0 0 0 1
TBCE 0 1 0 0 0 0 0 1
TBXAS1 0 0 1 0 0 0 0 1
TCTEX1D2 1 0 0 0 0 0 0 1
TECPR1 0 1 0 0 0 0 0 1
TLR9 0 1 0 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 0 0 1
WDFY3 0 1 0 0 0 0 0 1
WNK1 0 0 1 0 0 0 0 1
WWOX 0 0 1 0 0 0 0 1
ZBTB24 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 107
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 348 64 1835 676 429 0 0 3352
Illumina Clinical Services Laboratory,Illumina 1 2 1432 302 612 0 0 2347
OMIM 266 0 2 0 0 2 0 270
Center for Human Genetics, Inc,Center for Human Genetics, Inc 24 103 42 26 1 0 0 196
Genetic Services Laboratory, University of Chicago 72 9 37 1 0 0 0 119
Fulgent Genetics,Fulgent Genetics 20 1 95 0 0 0 0 116
Dan Cohn Lab,University Of California Los Angeles 71 2 2 0 0 0 0 75
Mendelics 14 3 14 11 17 0 0 59
GeneReviews 52 0 0 0 1 0 0 53
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 40 0 0 43
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 34 3 6 0 0 0 0 43
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 5 25 1 0 0 0 36
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 31 0 0 0 0 0 0 31
Baylor Genetics 19 2 5 0 0 0 0 26
Molecular Pathology, SA Pathology 20 1 5 0 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 17 0 0 23
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 2 5 0 15 0 0 0 22
Shen Lab,Columbia University Medical Center 1 21 0 0 0 0 0 22
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 21 0 0 0 0 21
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 7 6 7 0 0 0 0 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 11 0 1 0 0 17
Shaikh Laboratory, University of Colorado 0 16 0 0 0 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 13 0 0 14
Institute of Human Genetics,Klinikum rechts der Isar 9 5 0 0 0 0 0 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 5 2 0 0 0 0 13
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 4 2 0 0 0 0 10
GeneDx 8 0 1 0 0 0 0 9
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 4 5 0 0 0 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 2 3 0 0 0 0 9
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 5 2 1 0 0 0 0 8
Clinical Genetics, Erasmus University Medical Center 2 0 6 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 6 0 0 0 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 8 0 0 0 0 0 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 6 0 0 8
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 8 0 0 0 0 0 0 8
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 6 1 0 0 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 6 1 0 0 0 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 2 0 0 0 0 0 7
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 5 0 0 0 0 0 7
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 4 1 1 0 0 0 0 6
Johns Hopkins Genomics,Johns Hopkins University 2 2 2 0 0 0 0 6
Institute of Human Genetics,University of Goettingen 2 2 1 0 0 0 0 5
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 1 1 1 0 0 0 5
UCLA Clinical Genomics Center, UCLA 1 4 0 0 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 0 0 5
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 5 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 2 0 0 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 4 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 0 4
Paul Sabatier University EA-4555, Paul Sabatier University 0 1 0 3 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 2 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 1 3 0 0 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 2 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 3 0 0 0 0 0 4
Clinical Genetics Research Group,Karolinska Institutet 1 0 3 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 0 0 3
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 0 3
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 1 0 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 0 0 0 0 0 0 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 1 0 0 0 0 0 2
Leiden Open Variation Database 2 0 0 0 0 0 0 2
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 1 0 0 0 0 2
Clinical Genetics Group,University of Otago 2 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 2 0 0 0 0 2
DeNA Laboratory, DeNA Laboratory 0 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 1 0 0 0 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 1 0 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 1
Pediatrie Multidisciplinaire,Assitance Publique des Hopitaux de Marseille 1 0 0 0 0 0 0 1
Hunan Clinical Research Center of Ophthalmic Disease,The Second Xiangya Hospital 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 1
Division of Critical Care, Department of Pediatrics,Cardinal Glennon Children's Hospital 1 0 0 0 0 0 0 1
Children’s Hospital, Clinical research laboratory,Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden 1 0 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 0 1
Bjornsson Lab,Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 1 0 0 0 0 0 0 1
College of Medicine Research Centre,King Saud Univeristy 0 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1
Unidad de Genetica,Hospital Roberto del Rio 1 0 0 0 0 0 0 1

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